Neurogenetics Online Course – Content Outline

Behavioral Objectives Format Title Lecturer Participants will:

Describe 3 classification systems for neurogenetic disorders including location, genetic, and phenotype based. Lecture 1 Overview of Neurogenetics Andrew Burrow, MD Identify characteristics, symptoms, and inheritance patterns of common disorders impacting the cerebral cortex, basal ganglia, and cerebellum.

Discuss clinical features and genetics of Huntington Disease Genetic Counseling for an Adult Onset Lecture 2 Neurogenetic Condition: the Example of Erin Mundt, MS, LGC Explore the genetic counseling process for Huntington Disease and HD Huntington Disease gene testing Review Huntington Disease management and treatment. Distinguish between seizures and epilepsy Christine Spaeth, MS, Genetic Counseling and Testing for Single Gene Discuss various etiologies of epilepsy and targeted questions to ask Lecture 3 LGC Hansel Greiner, Epilepsies about epilepsy in a family or medical history MD Describe genetic conditions associated with epilepsy. Identify symptoms of ALS Lecture 4 Amyotrophic Lateral Sclerosis (ALS) Robert Hopkin, MD Describe the inheritance, testing, and treatment options of ALS Outline genetic counseling issues related to ALS Identify common clinical features of Tuberous Sclerosis Jennifer Glass, MS, Lecture 5 Tuberous Sclerosis LGC Explain inheritance, testing options and genetic counseling issues related to Tuberous Sclerosis Define characteristics of leukodystrophies Identify the structure and function of myelin. Lecture 6 Leukodystrophies Andrew Burrow, MD Describe the clinical features and inheritance patterns of different specific leukodystrophies Describe different mechanisms that result in ischemic stroke. Lecture 7 Familial Strokes Joseph Broderick, MD Identify environmental risk factors for aneurysms Recognize mendelian disorders that have an increased risk for stroke Identify reasons why a child may be referred to neurology. Approach to Evaluation of a Child with Summarize important factors to consider when making a diagnosis for a Lecture 8 Barbara Hallinan, MD Neurodevelopmental Disabilities child with a neurodevelopmental disability Recognize features of GLUT1 deficiency and Juvenile Batten disease

Identify important structures on prenatal ultrasound and fetal MRI. Genetic Counseling for Prenatal Onset Brain Develop a differential diagnosis for prenatal onset brain malformations. Lecture 9 Emily King, MS, LGC Malformations Discuss testing options and genetic counseling issues for prenatal brain malformations. Describe the domains of cognition and the cognitive spectrum Recognize the phenotype, pathology, and genetics of common causes The Genetics of Progressive Causes of Jennifer Rose Lecture 10 of neurodegenerative cognitive changes Dementia Molano, MD Identify the role of genetic counseling in neurodegenerative causes of cognitive changes Identify common imaging findings for posterior fossa malformations. Lecture 11 Posterior Fossa Malformations Emily King, MS, LGC Evaluate prognosis for varying posterior fossa malformations. Identify genetic conditions associated with posterior fossa malformations. Describe the features and outcomes of common migrational disorders including lissencephaly, pachygyria, schizencephaly, polymicrogyria, Lecture 12 Migrational Disorders Robert Hopkin, MD and heterotopia and related genetic syndromes Distinguish common causes of migrational disorders Identify types of vascular malformations Discuss different causes of vascular malformations including germline Lecture 13 Syndromic Malformations of Brain Vasculature Nicole Weaver, MD and mosaic genetic mutations Describe common syndromes that involve malformations of brain vasculature including HHT, CCM, Sturge-Weber, and others Incorporate knowledge of neurogenetics to process a neurogenetics Self- case. Paced Neurogenetics Case Modules NA Demonstrate neurogenetics knowledge through case-based learning. Case Modules